Phenotype #0000034623

Individual ID 00047261
Associated disease WVS
Inheritance Isolated (sporadic)
Age/Onset -
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Accelerated osseous maturation Hoarse, low-pitched cry Intellectual disability (bordeline-mild) Excessive appetite Poor fine motor coordination Poor balance and gravitational insecurity Macrocephaly Large bifrontal diameter Large ears Ocular hypertelorism Downslanted palpebral fissures Long philtrum Retrognathia Prominent digit pads Camptodactyly Broad thumbs Thin, deep-set nails Clinodactyly, toes Excessive loose skin Increased pigmented nevi Umbilical hernia Scoliosis (10 degrees)
Growth overgrowth prenatal
Hypotonia hypotonia
Protein -
Owner name Ana Cohen
Database submission license No license selected
Created by William Gibson
Date created 2013-12-29 07:04:33 +01:00 (CET)
Date last edited 2013-12-29 07:30:33 +01:00 (CET)

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